Allen NM - Search Results

1

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.

Allen NM, O'hIci B, Anderson G, Nestor T, Lynch SA, King MD. Allen NM, et al. Clin Genet. 2012 Jun;81(6):602-4. doi: 10.1111/j.1399-0004.2011.01777.x. Epub 2011 Dec 28. Clin Genet. 2012. PMID: 22220808 No abstract available.

2

Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patient.

Allen NM, Conroy J, Shahwan A, Ennis S, Lynch B, Lynch SA, King MD. Allen NM, et al. Am J Med Genet A. 2014 Jul;164A(7):1863-6. doi: 10.1002/ajmg.a.36532. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700477 No abstract available.

3

Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

McGovern M, Flanagan O, Lynch B, Lynch SA, Allen NM. McGovern M, et al. Among authors: allen nm. Clin Genet. 2017 Oct;92(4):447-448. doi: 10.1111/cge.13016. Epub 2017 May 25. Clin Genet. 2017. PMID: 28542708

4

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.

Conroy J, Allen NM, Gorman KM, Shahwan A, Ennis S, Lynch SA, King MD. Conroy J, et al. Among authors: allen nm. Clin Genet. 2016 Feb;89(2):E1-3. doi: 10.1111/cge.12648. Epub 2015 Aug 28. Clin Genet. 2016. PMID: 26235277

5

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD. Conroy J, et al. Among authors: allen nm. J Hum Genet. 2016 Aug;61(8):761-4. doi: 10.1038/jhg.2016.44. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193218

6

The variable phenotypes of KCNQ-related epilepsy.

Allen NM, Mannion M, Conroy J, Lynch SA, Shahwan A, Lynch B, King MD. Allen NM, et al. Epilepsia. 2014 Sep;55(9):e99-105. doi: 10.1111/epi.12715. Epub 2014 Jul 22. Epilepsia. 2014. PMID: 25052858 Free article.

7

"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects.

Moran MM, Allen NM, Treacy EP, King MD. Moran MM, et al. Among authors: allen nm. Pediatr Neurol. 2011 Dec;45(6):403-5. doi: 10.1016/j.pediatrneurol.2011.08.009. Pediatr Neurol. 2011. PMID: 22115005

8

Not all twitching is epileptic! Hand myoclonus in a boy with spinal cord tumor.

Allen NM, Moran MM, King MD. Allen NM, et al. J Pediatr. 2013 Feb;162(2):431-431.e1. doi: 10.1016/j.jpeds.2012.07.062. Epub 2012 Sep 12. J Pediatr. 2013. PMID: 22979978 No abstract available.

9

Clinical Reasoning: Juvenile neurocognitive decline: A "snaky" diagnosis.

Allen NM, Shahwan A, Madigan C, Nestor T, King MD. Allen NM, et al. Neurology. 2015 Dec 1;85(22):e170-4. doi: 10.1212/WNL.0000000000002180. Neurology. 2015. PMID: 26628494 No abstract available.

10

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.

Gorman KM, Forman E, Conroy J, Allen NM, Shahwan A, Lynch SA, Ennis S, King MD. Gorman KM, et al. Among authors: allen nm. Epilepsia. 2017 Jul;58(7):1301-1302. doi: 10.1111/epi.13794. Epilepsia. 2017. PMID: 28677859 No abstract available.

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